Isaac Tang

The paper shows ASXL3 truncating variants cause disease via gain-of-function, not loss-of-function, and demonstrates antisense oligonucleotides can reverse the transcriptional effects.

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

The paper evaluates human mutation databases to identify treatable variants using antisense oligonucleotides, finding most pathogenic variants could be targeted therapeutically.